Case report: Kabuki syndrome and persistent hypoglycemia in neonates
The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anoma...
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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer Medknow Publications
2024-12-01
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| Serija: | Journal of Family Medicine and Primary Care |
| Teme: | |
| Online dostop: | https://journals.lww.com/10.4103/jfmpc.jfmpc_674_24 |
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